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Anatomic Pathology > Syndromes/Associations > Flashcards

Syndromes/Associations Flashcards

0
Q

Tumors assd with polycythemia

A

RCC, cerebellar hemangioblastoma, HCC, leiomyoma, SFT

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1
Q

Tumors causing hypoglycemia

A

Insulinoma, Fibrosarcoma, SFT, HCC

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2
Q

Tumors assd with acanthosis nigricans

A

Gastric, Lung, Uterine

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3
Q

Cowden syndrome

A

FAP (hamartomas),
tricholemmomas,
dysplastic gangliocytoma (Lhermitte-Duclos),
breast CA, thyroid CA

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4
Q

Gardner syndrome

A

FAP (adenomas),
Jaw osteomas,
desmoids,
desmoplastic fibromas/nasopharyngeal fibroma

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5
Q

Syndrome assd with SCTAT

A

Peutz-Jeghers

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6
Q

Peutz-Jeghers

A 
small bowel hamartomas, 
sex-cord tumor with annular tubules, 
large cell calcifying sertoli tumor, 
adenoma malignum, 
breast, lung, ovary, panc
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7
Q

Cronkite-Canada syndrome

A

FAP (harmartomas),
eletrolyte problems,
skin and nail changes,
severe

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8
Q

Li-Fraumeni syndrome

A 
p53 mutation; 
adrenal cortical carcinoma, 
rhabdomyosarcoma, 
glioblastoma,
osteosarcoma, 
breast, colon, stomach
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9
Q

MEN 2B

A 
(Wermer, RET) 
Medullary thyroid, 
Pheo, 
Gangliomas, 
Marfanoid
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10
Q

MEN 2A

A

(Sipple, RET)
Hyperparathyroid,
Medullary thyroid,
Pheo

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11
Q

MEN 1

A

(11q13)
Hyperparathyroid,
pituitary adenoma,
panc endocrine tumors

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12
Q

LAD defect

A

1: CD11/CD18 integins,
2: sialylated oligosaccaride

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13
Q

CGD

A

NADPH oxidase

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14
Q

Chediak-Higashi

A

lysosomal defect

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15
Q

Syndrome assd with sebaceous adenoma

A

Muir Torre, HNPCC

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16
Q

Carney Triad

A

Paraganglioma,
gastric GIST,
pulmonary chondroma

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17
Q

Incontinentia pigmenti

A

eosinophilic spongiotic dermatitis,

x-linked dominant

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18
Q

Fabry dz

A

alpha-galactosidase A deficiency,

angiokeratomas

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19
Q

Brain tumor with FAP

A

Medulloblastoma

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20
Q

Genetics of FAP

A

APC gene,
inhibits WNT pathway,
B-catenin

21
Q

Prader-Willi/Angelman genetics

A

del 15q

22
Q

DiGeorge Genetics

A

del22q

23
Q

Neiman Pick dz

A

Sphingomyelinase deficiency

24
Q

Gaucher dz

A

Glucocerebrosidase def

25
Q

MYH9 mutation syndromes

A

May-Hegglin,
Sebastian synd,
Fletchner synd,
Epstein synd (all with giant plts)

26
Q

Pearson Syndrome

A

Mitochondrial sideroblastic anemia,
cytopenias,
exocrine pancreatic deficiency

27
Q

Chromosome breakage syndromes/mis-match repair

A

Ataxia-telangiectasia,
Bloom synd,
Xeroderma pigmentosum,
Fanconi anemia

28
Q

Beckwith-Wiedeman syndrome

A 
Excessive growth, 
adrenal cortical CA, 
wilms, 
hepatoblastoma, 
rhabdomyosarcoma, 
pancreatoblastoma
29
Q

Other tumors with hereditary retinoblastoma

A 
Pineoblastoma, 
Osteosarcoma, 
chondrosarcoma, 
fibrosarcoma, 
ewing, 
leukemia/lymphoma
30
Q

BRCA1

A

17q, medullary breast CA

31
Q

BRCA2

A

13q, male breast CA

32
Q

Carney Syndrome

A 
Cutaneous and cardiac myxomas
Lentigenes and blue nevi
Endocrine overactivity (adrenal, thyroid, pituitary, testicular)
Sclerosing sertoli cell tumor
Pigmented psammomatous schwannoma
33
Q

Syndromes assd with pheochromocytoma

A 
MEN2A
MEN2B
Von Hippel-Lindau
NF1
Sturge-Webber
Hereditary paraganglioma syndromes
34
Q

NF1

A

Neurofibromin
17q

Neurofibromas
Gliomas

35
Q

NF2

A 
Merlin 
22q
Schwannomas
Meningiomas
Ependymomas
Bilateral vestibular schwannomas
36
Q

Tuberous sclerosis genetics

A

TSC1 ch9 Hamartin

TSC2 ch 16 Tuberin

37
Q

Brain tumor most assd with tuberous sclerosis

A

Subependymal giant cell astrocytoma

38
Q

Turcot syndrome

A

FAP (adenomatous)
Medulloblastoma
Glioblastoma

39
Q

Von Hippel-Lindau

A 
3p
Hemangioblastoma
RCC
Panc islet cell tutors
Pheochromocytoma
Endolymphatic sac tumor
40
Q

Niemann-Pick

A

Sphingomyelinase deficiency

41
Q

Tay-Sachs

A

Hexosaminidos A deficiency

42
Q

Krabbe dz

A

Galactocerebrosidase def

43
Q

Canavan dz

A

Aspartoacylase def

Increased urine NAA

44
Q

Metachromatic leukodystrophy

A

Arylsulfatase A def

45
Q

X-linked adrenoleukodystrophy

A

ABCD1 gene
Increased plasma very long chain fatty acids
Children
CNS white matter and adrenal

46
Q

Lhermitte-Duclos dz

A

Dysplastic cerebellar gangliocytoma

Assd with Cowden syndrome

47
Q

Gorlin syndrome

A 
Medulloblastoma
BCCs
Odontogenic keratocysts
Ovarian tumors
(PTCH gene)
48
Q

Letterer-Siwe dz

A

Systemic, rapidly fatal langerhans cell histiocytosis

49
Q

Hand-Schuller-Christian dz

A

Langerhans cell histiocytosis with multifocal bone lesions

50
Q

Hamartomatous polyposis syndromes

A

Peutz-Jegher,
Cowden,
Cronkhite-Canada,
Familial juvenile polyposis

51
Q

Adenomatous polyposis syndromes

A

FAP,
Gardner,
Turcot

Anatomic Pathology (15 decks)

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